Crystalline nephropathy due to APRT deficiency: A preventable cause of renal and renal allograft failure
We report two cases of APRT deficiency from our center. DNA sequencing of APRT gene performed in one of the cases revealed a pathogenic variant in Exon1 of APRT gene (c.3G>C; p.Met1). This variant affects the translation initiation codon and results in a start loss. The variant has previously been reported in two cases with APRT deficiency.
Source: Indian Journal of Nephrology - Category: Urology & Nephrology Authors: Prashant Rajput Zaheer A Virani Bharat V Shah Source Type: research
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